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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28891

FusionGeneSummary for PRPF8_PEX1

check button Fusion gene summary
Fusion gene informationFusion gene name: PRPF8_PEX1
Fusion gene ID: 28891
HgeneTgene
Gene symbol

PRPF8

PEX1

Gene ID

10594

339324

Gene namepre-mRNA processing factor 8zinc finger protein 260
SynonymsHPRP8|PRP8|PRPC8|RP13|SNRNP220OZRF1|PEX1|ZFP260
Cytomap

17p13.3

19q13.12

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologPRP8 pre-mRNA processing factor 8 homologU5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8papoptosis-regulated protein 1apoptosis-regulated protein 2zinc finger protein 260zfp-260
Modification date2018052320180519
UniProtAcc

Q6P2Q9

O43933

Ensembl transtripts involved in fusion geneENST00000304992, ENST00000572621, 
ENST00000575116, 
ENST00000438045, 
ENST00000248633, ENST00000428214, 
ENST00000541751, 
Fusion gene scores* DoF score7 X 9 X 1=639 X 6 X 7=378
# samples 99
** MAII scorelog2(9/63*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRPF8 [Title/Abstract] AND PEX1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePRPF8

GO:0000244

spliceosomal tri-snRNP complex assembly

20595234

HgenePRPF8

GO:0000398

mRNA splicing, via spliceosome

28781166


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AA491159PRPF8chr17

1577636

-PEX1chr7

92122702

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000304992ENST00000438045PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000304992ENST00000248633PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000304992ENST00000428214PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000304992ENST00000541751PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000572621ENST00000438045PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000572621ENST00000248633PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000572621ENST00000428214PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000572621ENST00000541751PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000575116ENST00000438045PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000575116ENST00000248633PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000575116ENST00000428214PRPF8chr17

1577636

-PEX1chr7

92122702

-
intron-intronENST00000575116ENST00000541751PRPF8chr17

1577636

-PEX1chr7

92122702

-

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FusionProtFeatures for PRPF8_PEX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PRPF8

Q6P2Q9

PEX1

O43933

Functions as a scaffold that mediates the orderedassembly of spliceosomal proteins and snRNAs. Required for theassembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffoldthat positions spliceosomal U2, U5 and U6 snRNAs at splice siteson pre-mRNA substrates, so that splicing can occur. Interacts withboth the 5' and the 3' splice site. {ECO:0000269|PubMed:20595234,ECO:0000303|PubMed:15840809}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for PRPF8_PEX1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PRPF8_PEX1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for PRPF8_PEX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PRPF8_PEX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRPF8C1838702Retinitis Pigmentosa 132CTD_human;UNIPROT
HgenePRPF8C0019693HIV Infections1CTD_human
TgenePEX1C0043459Zellweger Syndrome7CTD_human;ORPHANET;UNIPROT
TgenePEX1C0282527Infantile Refsum Disease (disorder)7ORPHANET;UNIPROT
TgenePEX1C1832200Peroxisome biogenesis disorders3CTD_human
TgenePEX1C1856186Deafness enamel hypoplasia nail defects1ORPHANET;UNIPROT